"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458000	NM_000243.3(MEFV):c.2163C>T (p.Phe721=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 740298	NM_000243.3(MEFV):c.2149C>T (p.Arg717Cys)	LOC126862264, MEFV (R717C)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +2 more	GConflicting classifications of pathogenicity
Select item 97496	NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys)	LOC126862264, MEFV (R708C)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 36508	NM_000243.3(MEFV):c.2118G>A (p.Pro706=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever, autosomal dominant +5 more	GConflicting classifications of pathogenicity
Select item 2547	NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)	LOC126862264, MEFV (K695R)	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +9 more	GConflicting classifications of pathogenicity
Select item 2539	NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +24 more	GPathogenic/Likely pathogenic
Select item 97485	NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)	LOC126862264, MEFV (I692del)	Deletion	Autoinflammatory syndrome +3 more	GPathogenic/Likely pathogenic
Select item 97482	NM_000243.3(MEFV):c.2049G>A (p.Ser683=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36507	NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +6 more	GPathogenic
Select item 2550	NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever, autosomal dominant +3 more	GPathogenic
Select item 97473	NM_000243.3(MEFV):c.1956C>A (p.Arg652=)	LOC126862264, MEFV	Single nucleotide variant (synonymous variant +1 more)	Familial Mediterranean fever +1 more	GConflicting classifications of pathogenicity
Select item 97464	NM_000243.3(MEFV):c.1795A>G (p.Asn599Asp)	LOC126862264, MEFV (N599D)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 493169	NM_000243.3(MEFV):c.1779T>A (p.Ala593=)	LOC126862264, MEFV (S441T)	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 36506	NM_000243.3(MEFV):c.1772T>C (p.Ile591Thr)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Familial Mediterranean fever +6 more	GConflicting classifications of pathogenicity
Select item 97458	NM_000243.3(MEFV):c.1760-4G>A	LOC126862264, MEFV (R433H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36504	NM_000243.3(MEFV):c.1759+8C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	Familial Mediterranean fever, autosomal dominant +5 more	GBenign/Likely benign
Select item 632891	NM_000243.3(MEFV):c.1759+7C>T	LOC126862264, MEFV	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 97456	NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)	LOC126862264, MEFV (M582L +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity
Select item 641743	NM_000243.3(MEFV):c.1735C>T (p.Arg579Cys)	LOC126862264, MEFV (R579C +1 more)	Single nucleotide variant (missense variant)	Familial Mediterranean fever +4 more	GConflicting classifications of pathogenicity

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Items: 20